N118S (p.Asn118Ser) variant of CNGA1 (P29973)
N118S (p.Asn118Ser) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N118S (p.Asn118Ser) variant details
- p.Asn118Ser
- Ensembl rs1298952249
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.03
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available