K127T (p.Lys127Thr) variant of CNGA1 (P29973)
K127T (p.Lys127Thr) 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 0.15 / 1. The record also includes population frequency data and structural context.
K127T (p.Lys127Thr) variant details
- p.Lys127Thr
- ExAC rs773862362
- TOPMed rs773862362
- gnomAD rs773862362
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.03
- CADD 19.00
- PolyPhen-2 0.03
- SIFT 0.56
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available