H6H (p.His6His) variant of CAV3 (Caveolin-3)
H6H (p.His6His) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H6H (p.His6His) variant details
- p.His6His
- gnomAD 3-8733894-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 9.88
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available