M82V (p.Met82Val) variant of SMC1A (Q14683)
M82V (p.Met82Val) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
M82V (p.Met82Val) variant details
- p.Met82Val
- rs2146606672
- ClinGen CA413132342
- ClinVar RCV001532689
- ClinVar RCV006650912
- Conflicting interpretations
- not provided; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.18
- MetaSVM -0.92
- PolyPhen-2 0.64
- SIFT 0.92
- ClinVar: Conflicting classifications of pathogenicity (not provided; Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)