K41T (p.Lys41Thr) variant of GJB2 (Gap junction beta-2 protein)
K41T (p.Lys41Thr) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
K41T (p.Lys41Thr) variant details
- p.Lys41Thr
- gnomAD 13-20189460-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.73
- MetaLR 0.88
- MetaSVM 0.73
- CADD 23.60
- PolyPhen-2 0.25
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available