K38Q (p.Lys38Gln) variant of CAV3 (Caveolin-3)
K38Q (p.Lys38Gln) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
K38Q (p.Lys38Gln) variant details
- p.Lys38Gln
- gnomAD 3-8733988-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.72
- MetaSVM 0.29
- CADD 24.10
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available