A68E (p.Ala68Glu) variant of EYA1 (Protein phosphatase EYA1)
A68E (p.Ala68Glu) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A68E (p.Ala68Glu) variant details
- p.Ala68Glu
- cosmic curated COSV58159
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.19
- MetaLR 0.13
- MetaSVM -0.98
- CADD 22.10
- PolyPhen-2 0.41
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available