P93S (p.Pro93Ser) variant of EYA1 (Protein phosphatase EYA1)
P93S (p.Pro93Ser) in EYA1 (Protein phosphatase EYA1) 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.
P93S (p.Pro93Ser) variant details
- p.Pro93Ser
- cosmic curated COSV58156
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.22
- MetaLR 0.43
- MetaSVM -0.54
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available