L10P (p.Leu10Pro) variant of ATP6V1A (P38606)
L10P (p.Leu10Pro) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- gnomAD 3-113778782-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.24
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available