V176M (p.Val176Met) variant of SMC1A (Q14683)
V176M (p.Val176Met) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V176M (p.Val176Met) variant details
- p.Val176Met
- rs2520963158
- ClinGen CA413259330
- ClinVar RCV002690248
- Uncertain significance
- not provided; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.10
- MetaSVM -1.00
- CADD 19.40
- ClinVar: Uncertain significance (not provided; Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)