K251N (p.Lys251Asn) variant of EYS (Protein eyes shut homolog)
K251N (p.Lys251Asn) in EYS (Protein eyes shut homolog) 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 0.23 / 1. The record also includes population frequency data.
K251N (p.Lys251Asn) variant details
- p.Lys251Asn
- rs758660747
- NCI-TCGA Cosmic COSV6097
- NCI-TCGA Cosmic COSV6098
- NCI-TCGA Cosmic COSV6100
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.27
- CADD 13.70
- PolyPhen-2 0.49
- SIFT 0.50
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available