K102N (p.Lys102Asn) variant of CNGA1 (P29973)
K102N (p.Lys102Asn) 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 0.23 / 1. The record also includes population frequency data and structural context.
K102N (p.Lys102Asn) variant details
- p.Lys102Asn
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- ExAC rs760198986
- gnomAD rs760198986
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.03
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available