K108T (p.Lys108Thr) variant of CNGA1 (P29973)
K108T (p.Lys108Thr) in CNGA1 (P29973) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K108T (p.Lys108Thr) variant details
- p.Lys108Thr
- ExAC rs773033454
- gnomAD rs773033454
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.17
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available