D214G (p.Asp214Gly) variant of SMC1A (Q14683)
D214G (p.Asp214Gly) 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; not provided; Inborn genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D214G (p.Asp214Gly) variant details
- p.Asp214Gly
- rs1001684337
- ClinGen CA329907612
- ClinVar RCV003051510
- ClinVar RCV005744595
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome; not provided; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.52
- MetaLR 0.26
- MetaSVM -0.65
- CADD 26.70
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome; not provided;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.3e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)