T32R (p.Thr32Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
T32R (p.Thr32Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
T32R (p.Thr32Arg) variant details
- p.Thr32Arg
- TOPMed rs775869590
- gnomAD rs775869590
- Uncertain significance
- Missense
- AlphaMissense 0.15
- MetaLR 0.89
- MetaSVM 1.04
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)