K127M (p.Lys127Met) variant of CNGA1 (P29973)
K127M (p.Lys127Met) 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 0.18 / 1. The record also includes population frequency data and structural context.
K127M (p.Lys127Met) variant details
- p.Lys127Met
- rs773862362
- ClinGen CA2911301
- ClinVar RCV001213147
- ExAC rs773862362
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.04
- CADD 24.40
- PolyPhen-2 0.44
- SIFT 0.11
- 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