H96R (p.His96Arg) variant of EYA1 (Protein phosphatase EYA1)
H96R (p.His96Arg) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
H96R (p.His96Arg) variant details
- p.His96Arg
- rs377434964
- ClinGen CA4779815
- ClinVar RCV001764958
- ESP rs377434964
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.64
- MetaLR 0.71
- MetaSVM 0.36
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available