P88H (p.Pro88His) variant of GJA1 (Gap junction alpha-1 protein)
P88H (p.Pro88His) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P88H (p.Pro88His) variant details
- p.Pro88His
- gnomAD 6-121447110-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 1.03
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available