M106V (p.Met106Val) variant of EYA1 (Protein phosphatase EYA1)
M106V (p.Met106Val) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
M106V (p.Met106Val) variant details
- p.Met106Val
- Ensembl rs1822592144
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.51
- MetaLR 0.62
- MetaSVM 0.09
- CADD 21.70
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available