P27R (p.Pro27Arg) variant of ATP6V1A (P38606)
P27R (p.Pro27Arg) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- rs1553709380
- ClinGen CA354003509
- ClinVar RCV000656506
- ClinVar RCV001266663
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided)
- EBI: Pathogenic (in IECEE3)
- UniProt: Pathogenic (in IECEE3)
- Structural context available
- Cited in: De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. (PMID 29668857)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)