S49I (p.Ser49Ile) variant of EYA1 (Protein phosphatase EYA1)
S49I (p.Ser49Ile) 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.
S49I (p.Ser49Ile) variant details
- p.Ser49Ile
- cosmic curated COSV10460
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.32
- MetaLR 0.31
- MetaSVM -0.47
- CADD 25.40
- PolyPhen-2 0.63
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available