N4S (p.Asn4Ser) variant of CNGA1 (P29973)
N4S (p.Asn4Ser) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
N4S (p.Asn4Ser) variant details
- p.Asn4Ser
- rs2110160641
- ClinGen CA356836796
- ClinVar RCV002010083
- Ensembl rs2110160641
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.05
- CADD 2.93
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available