K41R (p.Lys41Arg) variant of GJB2 (Gap junction beta-2 protein)
K41R (p.Lys41Arg) in GJB2 (Gap junction beta-2 protein) 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 0.66 / 1. The record also includes population frequency data and structural context.
K41R (p.Lys41Arg) variant details
- p.Lys41Arg
- rs866127155
- ClinGen CA246460871
- cosmic curated COSV10822
- ClinVar RCV001981346
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.64
- MetaLR 0.87
- MetaSVM 0.69
- CADD 23.40
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available