L41F (p.Leu41Phe) variant of SMC1A (Q14683)
L41F (p.Leu41Phe) in SMC1A (Q14683) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
L41F (p.Leu41Phe) variant details
- p.Leu41Phe
- rs727503776
- ClinGen CA333597
- ClinVar RCV000157052
- Ensembl rs727503776
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.76
- MetaSVM 0.18
- PolyPhen-2 0.19
- SIFT 0.75
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)