A165V (p.Ala165Val) variant of SMC1A (Q14683)
A165V (p.Ala165Val) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 85, with or without midline brain de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A165V (p.Ala165Val) variant details
- p.Ala165Val
- rs1556890833
- ClinGen CA413259409
- ClinVar RCV000813864
- ClinVar RCV002495143
- Uncertain significance
- Developmental and epileptic encephalopathy, 85, with or without midline brain de
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.22
- MetaSVM -0.79
- CADD 22.60
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 85, with or without)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)