L124F (p.Leu124Phe) variant of SMC1A (Q14683)
L124F (p.Leu124Phe) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of SMC1A-related disorder; Congenital muscular hypertrophy-cerebral syndrome; Devel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L124F (p.Leu124Phe) variant details
- p.Leu124Phe
- rs148835205
- ClinGen CA10420678
- ClinVar RCV000976394
- ClinVar RCV001456061
- Likely benign
- SMC1A-related disorder; Congenital muscular hypertrophy-cerebral syndrome; Devel
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.12
- MetaSVM -1.02
- CADD 22.10
- ClinVar: Likely benign (SMC1A-related disorder; Congenital muscular hypertrophy-cerebral)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)