K338N (p.Lys338Asn) variant of SMC1A (Q14683)
K338N (p.Lys338Asn) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K338N (p.Lys338Asn) variant details
- p.Lys338Asn
- rs893697991
- ClinGen CA329907584
- ClinVar RCV002842100
- TOPMed rs893697991
- Conflicting interpretations
- not provided; not specified; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.29
- MetaSVM -0.76
- CADD 16.70
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Congenital muscular hypertrophy-cer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)