R33P (p.Arg33Pro) variant of GJA1 (Gap junction alpha-1 protein)
R33P (p.Arg33Pro) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R33P (p.Arg33Pro) variant details
- p.Arg33Pro
- gnomAD 6-121446945-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available