S87C (p.Ser87Cys) variant of ATP6V1A (P38606)
S87C (p.Ser87Cys) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S87C (p.Ser87Cys) variant details
- p.Ser87Cys
- ExAC rs773297197
- gnomAD rs773297197
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.31
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available