A14P (p.Ala14Pro) variant of COL3A1 (Collagen alpha-1(III) chain)
A14P (p.Ala14Pro) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- rs547373542
- ClinGen CA349845422
- ClinVar RCV004012678
- Uncertain significance
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 0.12
- MetaLR 0.48
- MetaSVM -0.54
- PolyPhen-2 0.38
- SIFT 0.33
- MutPred 0.74
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)