A23V (p.Ala23Val) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A23V (p.Ala23Val) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99909
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0804
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.17
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available