K133N (p.Lys133Asn) variant of CNGA1 (P29973)
K133N (p.Lys133Asn) 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 0.26 / 1. The record also includes population frequency data and structural context.
K133N (p.Lys133Asn) variant details
- p.Lys133Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.04
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.54
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available