A41P (p.Ala41Pro) variant of COL17A1 (Collagen alpha-1(XVII) chain)
A41P (p.Ala41Pro) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
A41P (p.Ala41Pro) variant details
- p.Ala41Pro
- TOPMed rs1204059013
- gnomAD rs1204059013
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 12.30
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)