E49K (p.Glu49Lys) variant of ATP6V1A (P38606)
E49K (p.Glu49Lys) 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 0.43 / 1. The record also includes population frequency data and structural context.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- rs778431937
- ClinGen CA2547770
- NCI-TCGA Cosmic COSV5636
- ClinVar RCV002672146
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.20
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available