R329P (p.Arg329Pro) variant of SMC1A (Q14683)
R329P (p.Arg329Pro) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
R329P (p.Arg329Pro) variant details
- p.Arg329Pro
- rs782449052
- ClinGen CA413257573
- ClinVar RCV002036925
- ExAC rs782449052
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.37
- MetaSVM -0.34
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)