R160H (p.Arg160His) variant of SMC1A (Q14683)
R160H (p.Arg160His) 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; SMC1A-related disorder; Congenital muscular hypertrophy-cerebral s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R160H (p.Arg160His) variant details
- p.Arg160His
- rs2075720699
- ClinGen CA413259440
- ClinVar RCV003394506
- ClinVar RCV003624521
- Uncertain significance
- not provided; SMC1A-related disorder; Congenital muscular hypertrophy-cerebral s
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.30
- MetaSVM -0.56
- CADD 22.90
- ClinVar: Uncertain significance (not provided; SMC1A-related disorder; Congenital muscular hypert)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)