S21R (p.Ser21Arg) variant of EYA1 (Protein phosphatase EYA1)
S21R (p.Ser21Arg) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S21R (p.Ser21Arg) variant details
- p.Ser21Arg
- gnomAD rs1826695189
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.04
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available