A23S (p.Ala23Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
A23S (p.Ala23Ser) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- rs1386580787
- ClinGen CA341159462
- ClinVar RCV001565716
- TOPMed rs1386580787
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- ESM-1b 0.00
- AlphaMissense 0.40
- MetaLR 0.02
- MetaSVM -1.06
- PolyPhen-2 0.17
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available