P572L (p.Pro572Leu) variant of SMC1A (Q14683)
P572L (p.Pro572Leu) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
P572L (p.Pro572Leu) variant details
- p.Pro572Leu
- rs2520930054
- ClinGen CA413253456
- ClinVar RCV002471965
- Likely pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)