S53N (p.Ser53Asn) variant of CAV3 (Caveolin-3)
S53N (p.Ser53Asn) in CAV3 (Caveolin-3) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
S53N (p.Ser53Asn) variant details
- p.Ser53Asn
- rs199476326
- ClinGen CA215215
- ClinVar RCV000024429
- Ensembl rs199476326
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (not provided)
- UniProt: Not provided (in RMD2)
- Structural context available