A62T (p.Ala62Thr) variant of ATP6V1A (P38606)
A62T (p.Ala62Thr) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A62T (p.Ala62Thr) variant details
- p.Ala62Thr
- gnomAD 3-113781151-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.86
- CADD 27.40
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available