V3I (p.Val3Ile) variant of COL17A1 (Collagen alpha-1(XVII) chain)
V3I (p.Val3Ile) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Junctional epidermolysis bullosa, non-Herlitz type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V3I (p.Val3Ile) variant details
- p.Val3Ile
- rs2086757025
- ClinGen CA378083155
- ClinVar RCV001103039
- Ensembl rs2086757025
- Uncertain significance
- Junctional epidermolysis bullosa, non-Herlitz type
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Junctional epidermolysis bullosa, non-Herlitz type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)