R377Q (p.Arg377Gln) variant of SMC1A (Q14683)
R377Q (p.Arg377Gln) 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; Developmental and epileptic e. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R377Q (p.Arg377Gln) variant details
- p.Arg377Gln
- rs782541938
- ClinGen CA10420596
- ClinVar RCV003091265
- ClinVar RCV005045270
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic e
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.32
- MetaSVM -0.36
- CADD 22.90
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome; Developmental)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)