K129R (p.Lys129Arg) variant of SMC1A (Q14683)
K129R (p.Lys129Arg) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
K129R (p.Lys129Arg) variant details
- p.Lys129Arg
- rs1223252947
- ClinGen CA413131457
- cosmic curated COSV59132
- ClinVar RCV001987995
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.79
- MetaSVM 0.51
- CADD 23.90
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome; not specified)
- 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)