K14E (p.Lys14Glu) variant of ATP6V1A (P38606)
K14E (p.Lys14Glu) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
K14E (p.Lys14Glu) variant details
- p.Lys14Glu
- TOPMed rs1398880626
- gnomAD rs1398880626
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.19
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available