L25P (p.Leu25Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
L25P (p.Leu25Pro) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- rs1831316527
- ClinGen CA375443961
- ClinVar RCV003994784
- UniProt VAR 057902
- Pathogenic
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.66
- AlphaMissense 0.26
- MetaLR 0.60
- MetaSVM -0.34
- CADD 22.80
- PolyPhen-2 0.36
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Pathogenic (in EDSCL1)
- UniProt: Pathogenic (in EDSCL1)
- Population evidence available
- Structural context available
- Cited in: COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. (PMID 18972565)
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)