R132T (p.Arg132Thr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R132T (p.Arg132Thr) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
R132T (p.Arg132Thr) variant details
- p.Arg132Thr
- 1000Genomes rs144940994
- ExAC rs144940994
- TOPMed rs144940994
- gnomAD rs144940994
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)