P76L (p.Pro76Leu) variant of EYA1 (Protein phosphatase EYA1)
P76L (p.Pro76Leu) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P76L (p.Pro76Leu) variant details
- p.Pro76Leu
- NCI-TCGA Cosmic COSV5816
- cosmic curated COSV58163
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.39
- MetaLR 0.45
- MetaSVM -0.18
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available