P88P (p.Pro88Pro) variant of GJA1 (Gap junction alpha-1 protein)
P88P (p.Pro88Pro) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P88P (p.Pro88Pro) variant details
- p.Pro88Pro
- rs766836780
- gnomAD 6-121447111-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 10.90
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available
- Literature evidence available