L43P (p.Leu43Pro) variant of COL7A1 (Collagen alpha-1(VII) chain)
L43P (p.Leu43Pro) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The record also includes variant effect predictions and population frequency data.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- rs149317921
- ClinGen CA2381638
- ClinVar RCV001921198
- ClinVar RCV005238068
- Uncertain significance
- not provided; not specified
- Missense
- CADD 28.10
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)