S102A (p.Ser102Ala) variant of SMC1A (Q14683)
S102A (p.Ser102Ala) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
S102A (p.Ser102Ala) variant details
- p.Ser102Ala
- rs2146606564
- ClinGen CA413131900
- ClinVar RCV001371240
- ClinVar RCV005423979
- Uncertain significance
- not provided; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.77
- MetaSVM 0.07
- PolyPhen-2 0.95
- SIFT 0.24
- ClinVar: Uncertain significance (not provided; Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)