P88H (p.Pro88His) variant of COL5A2 (Collagen alpha-2(V) chain)
P88H (p.Pro88His) 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, 2; not specified; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P88H (p.Pro88His) variant details
- p.Pro88His
- rs149877855
- ClinGen CA322375
- ClinVar RCV000197910
- ClinVar RCV001142046
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 2; not specified; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.56
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 2; not specified; Ehlers-D)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00032)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)