K104R (p.Lys104Arg) variant of CNGA1 (P29973)
K104R (p.Lys104Arg) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
K104R (p.Lys104Arg) variant details
- p.Lys104Arg
- rs1057518486
- ClinGen CA16042567
- ClinVar RCV000413649
- Ensembl rs1057518486
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.02
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available