P133L (p.Pro133Leu) variant of COL5A2 (Collagen alpha-2(V) chain)
P133L (p.Pro133Leu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome, classic type, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P133L (p.Pro133Leu) variant details
- p.Pro133Leu
- rs374225489
- ClinGen CA324965
- ClinVar RCV000200397
- ClinVar RCV003153468
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome, classic type, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.43
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)