A37T (p.Ala37Thr) variant of ATP6V1A (P38606)
A37T (p.Ala37Thr) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- ExAC rs759487334
- gnomAD rs759487334
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.65
- CADD 25.00
- PolyPhen-2 0.65
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available