L64P (p.Leu64Pro) variant of COL7A1 (Collagen alpha-1(VII) chain)
L64P (p.Leu64Pro) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
L64P (p.Leu64Pro) variant details
- p.Leu64Pro
- gnomAD rs1251469053
- Missense
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)