K125T (p.Lys125Thr) variant of CNGA1 (P29973)
K125T (p.Lys125Thr) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K125T (p.Lys125Thr) variant details
- p.Lys125Thr
- ExAC rs766903165
- gnomAD rs766903165
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.03
- CADD 21.70
- PolyPhen-2 0.40
- SIFT 0.46
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available