Y40F (p.Tyr40Phe) variant of ATP6V1A (P38606)
Y40F (p.Tyr40Phe) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Y40F (p.Tyr40Phe) variant details
- p.Tyr40Phe
- Ensembl rs1708971781
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.56
- CADD 22.90
- PolyPhen-2 0.43
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available