S110N (p.Ser110Asn) variant of CNGA1 (P29973)
S110N (p.Ser110Asn) 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 0.23 / 1. The record also includes population frequency data and structural context.
S110N (p.Ser110Asn) variant details
- p.Ser110Asn
- rs1389575721
- ClinGen CA356832392
- ClinVar RCV003046784
- gnomAD rs1389575721
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.04
- CADD 25.00
- PolyPhen-2 0.07
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available