M42V (p.Met42Val) variant of SGCD (Delta-sarcoglycan)
M42V (p.Met42Val) in SGCD (Delta-sarcoglycan) 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 0.72 / 1. The record also includes structural context.
M42V (p.Met42Val) variant details
- p.Met42Val
- NCI-TCGA Cosmic COSV6190
- cosmic curated COSV61904
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- ESM-1b 0.70
- AlphaMissense 0.56
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available