P31L (p.Pro31Leu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
P31L (p.Pro31Leu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- TOPMed rs1291761234
- gnomAD rs1291761234
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)