V73A (p.Val73Ala) variant of ATP6V1A (P38606)
V73A (p.Val73Ala) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V73A (p.Val73Ala) variant details
- p.Val73Ala
- gnomAD 3-113784230-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.82
- CADD 28.20
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available