Q7P (p.Gln7Pro) variant of GJB2 (Gap junction beta-2 protein)
Q7P (p.Gln7Pro) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q7P (p.Gln7Pro) variant details
- p.Gln7Pro
- gnomAD 13-20189562-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.73
- MetaLR 0.94
- MetaSVM 0.99
- CADD 22.70
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available