R255H (p.Arg255His) variant of SMC1A (Q14683)
R255H (p.Arg255His) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R255H (p.Arg255His) variant details
- p.Arg255His
- rs782606119
- ClinGen CA10420637
- ClinVar RCV001034190
- ClinVar RCV003314659
- Conflicting interpretations
- not provided; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.23
- MetaSVM -0.74
- CADD 21.40
- ClinVar: Conflicting classifications of pathogenicity (not provided; Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.0002)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)