H18H (p.His18His) variant of CAV3 (Caveolin-3)
H18H (p.His18His) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H18H (p.His18His) variant details
- p.His18His
- rs775054657
- gnomAD 3-8733930-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 13.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available