N17K (p.Asn17Lys) variant of CNGA1 (P29973)
N17K (p.Asn17Lys) in CNGA1 (P29973) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
N17K (p.Asn17Lys) variant details
- p.Asn17Lys
- rs748755294
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- ExAC rs748755294
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.03
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.74
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available