T30I (p.Thr30Ile) variant of COL7A1 (Collagen alpha-1(VII) chain)
T30I (p.Thr30Ile) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions, population frequency data, and published literature.
T30I (p.Thr30Ile) variant details
- p.Thr30Ile
- rs74453879
- ClinGen CA2381652
- ClinVar RCV000353546
- ClinVar RCV000964915
- Benign
- Missense
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.11
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.12)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)