L10F (p.Leu10Phe) variant of ATP6V1A (P38606)
L10F (p.Leu10Phe) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- ExAC rs757699250
- gnomAD rs757699250
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.24
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available