L36P (p.Leu36Pro) variant of GJB6 (Gap junction beta-6 protein)
L36P (p.Leu36Pro) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L36P (p.Leu36Pro) variant details
- p.Leu36Pro
- gnomAD 13-20223374-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- MetaLR 0.98
- MetaSVM 1.07
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available