K38N (p.Lys38Asn) variant of CAV3 (Caveolin-3)
K38N (p.Lys38Asn) in CAV3 (Caveolin-3) 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 and structural context.
K38N (p.Lys38Asn) variant details
- p.Lys38Asn
- cosmic curated COSV10887
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.87
- MetaSVM 0.87
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available