A153V (p.Ala153Val) variant of SMC1A (Q14683)
A153V (p.Ala153Val) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A153V (p.Ala153Val) variant details
- p.Ala153Val
- rs1171109209
- ClinGen CA413259490
- ClinVar RCV001732506
- ClinVar RCV002032718
- Conflicting interpretations
- Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic e
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.41
- MetaSVM -0.20
- CADD 21.30
- ClinVar: Conflicting classifications of pathogenicity (Congenital muscular hypertrophy-cerebral syndrome; Developmental)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00038)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)