K2N (p.Lys2Asn) variant of CNGA1 (P29973)
K2N (p.Lys2Asn) in CNGA1 (P29973) 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 0.30 / 1. The record also includes population frequency data and structural context.
K2N (p.Lys2Asn) variant details
- p.Lys2Asn
- NCI-TCGA Cosmic COSV6205
- cosmic curated COSV62054
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.11
- CADD 25.20
- PolyPhen-2 0.85
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available