R255P (p.Arg255Pro) variant of SMC1A (Q14683)
R255P (p.Arg255Pro) 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 0.51 / 1. The record also includes published literature and structural context.
R255P (p.Arg255Pro) variant details
- p.Arg255Pro
- rs782606119
- ClinGen CA413258539
- ClinVar RCV003513087
- ClinVar RCV004780575
- Uncertain significance
- not provided; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.23
- MetaSVM -0.74
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)