P78L (p.Pro78Leu) variant of EYA1 (Protein phosphatase EYA1)
P78L (p.Pro78Leu) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P78L (p.Pro78Leu) variant details
- p.Pro78Leu
- cosmic curated COSV10460
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.06
- MetaLR 0.14
- MetaSVM -0.94
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available