P89S (p.Pro89Ser) variant of EYA1 (Protein phosphatase EYA1)
P89S (p.Pro89Ser) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P89S (p.Pro89Ser) variant details
- p.Pro89Ser
- gnomAD rs1255833754
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.32
- MetaLR 0.65
- MetaSVM 0.11
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available