K41E (p.Lys41Glu) variant of GJB2 (Gap junction beta-2 protein)
K41E (p.Lys41Glu) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K41E (p.Lys41Glu) variant details
- p.Lys41Glu
- gnomAD 13-20189461-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.44
- MetaLR 0.52
- MetaSVM 0.03
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available