T4A (p.Thr4Ala) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T4A (p.Thr4Ala) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; not specified; Junctional epidermolysis bullosa, non-Herlitz type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
T4A (p.Thr4Ala) variant details
- p.Thr4Ala
- rs17116471
- ClinGen CA5679619
- ClinVar RCV000251082
- ClinVar RCV000407352
- Benign
- not provided; not specified; Junctional epidermolysis bullosa, non-Herlitz type
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Benign (not provided; not specified; Junctional epidermolysis bullosa, n)
- EBI: Benign (in dbSNP:rs17116471)
- UniProt: Benign (in dbSNP:rs17116471)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)