D11Y (p.Asp11Tyr) variant of ATP6V1A (P38606)
D11Y (p.Asp11Tyr) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy 93. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D11Y (p.Asp11Tyr) variant details
- p.Asp11Tyr
- rs746407800
- ClinGen CA2547727
- ClinVar RCV003126309
- ClinVar RCV006332221
- Uncertain significance
- Inborn genetic diseases; Developmental and epileptic encephalopathy 93
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.73
- CADD 26.00
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)