E58A (p.Glu58Ala) variant of ATP6V1A (P38606)
E58A (p.Glu58Ala) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
E58A (p.Glu58Ala) variant details
- p.Glu58Ala
- gnomAD 3-113781140-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.91
- CADD 27.40
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available