L10R (p.Leu10Arg) variant of ATP6V1A (P38606)
L10R (p.Leu10Arg) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L10R (p.Leu10Arg) variant details
- p.Leu10Arg
- rs781640990
- ClinGen CA2547726
- ClinVar RCV001532485
- ExAC rs781640990
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.24
- CADD 9.68
- PolyPhen-2 0.00
- SIFT 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available