Q113K (p.Gln113Lys) variant of EYA1 (Protein phosphatase EYA1)
Q113K (p.Gln113Lys) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Q113K (p.Gln113Lys) variant details
- p.Gln113Lys
- ExAC rs747371845
- gnomAD rs747371845
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.64
- MetaLR 0.84
- MetaSVM 0.73
- CADD 27.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available