T30P (p.Thr30Pro) variant of COL7A1 (Collagen alpha-1(VII) chain)
T30P (p.Thr30Pro) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
T30P (p.Thr30Pro) variant details
- p.Thr30Pro
- ExAC rs758672611
- gnomAD rs758672611
- Missense
- CADD 24.40
- PolyPhen-2 0.19
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)