M42V (p.Met42Val) variant of SMC1A (Q14683)
M42V (p.Met42Val) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
M42V (p.Met42Val) variant details
- p.Met42Val
- rs1556891104
- ClinGen CA413133133
- ClinVar RCV000500991
- Ensembl rs1556891104
- Conflicting interpretations
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.87
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)