Q10K (p.Gln10Lys) variant of CNGA1 (P29973)
Q10K (p.Gln10Lys) 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.
Q10K (p.Gln10Lys) variant details
- p.Gln10Lys
- rs772481945
- ClinGen CA356836721
- ClinVar RCV001305694
- ExAC rs772481945
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.07
- CADD 3.36
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available