S90F (p.Ser90Phe) variant of EYA1 (Protein phosphatase EYA1)
S90F (p.Ser90Phe) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S90F (p.Ser90Phe) variant details
- p.Ser90Phe
- gnomAD rs1379371014
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.58
- MetaLR 0.73
- MetaSVM 0.53
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available