P20L (p.Pro20Leu) variant of EYA1 (Protein phosphatase EYA1)
P20L (p.Pro20Leu) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- cosmic curated COSV99063
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.36
- MetaLR 0.19
- MetaSVM -0.85
- CADD 24.10
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available