S110G (p.Ser110Gly) variant of CNGA1 (P29973)
S110G (p.Ser110Gly) 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 0.15 / 1. The record also includes population frequency data and structural context.
S110G (p.Ser110Gly) variant details
- p.Ser110Gly
- rs952618231
- ClinGen CA356832394
- ClinVar RCV001326653
- TOPMed rs952618231
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.03
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available