P122L (p.Pro122Leu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
P122L (p.Pro122Leu) 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 0.78 / 1. The record also includes population frequency data and published literature.
P122L (p.Pro122Leu) variant details
- p.Pro122Leu
- rs1356975720
- ClinGen CA378080356
- cosmic curated COSV10606
- ClinVar RCV001106004
- Uncertain significance
- Junctional epidermolysis bullosa, non-Herlitz type
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 26.10
- PolyPhen-2 0.71
- SIFT 0.00
- 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)
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)