H22R (p.His22Arg) variant of ATP6V1A (P38606)
H22R (p.His22Arg) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy 93; Inborn genetic diseases; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H22R (p.His22Arg) variant details
- p.His22Arg
- rs768359551
- ClinGen CA2547731
- ClinVar RCV002932838
- ClinVar RCV003269319
- Uncertain significance
- Developmental and epileptic encephalopathy 93; Inborn genetic diseases; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.34
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 93; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)