V42I (p.Val42Ile) variant of EYA1 (Protein phosphatase EYA1)
V42I (p.Val42Ile) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- cosmic curated COSV10733
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.12
- MetaLR 0.22
- MetaSVM -0.85
- CADD 29.70
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available