V54F (p.Val54Phe) variant of COL3A1 (Collagen alpha-1(III) chain)
V54F (p.Val54Phe) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The record also includes structural context.
V54F (p.Val54Phe) variant details
- p.Val54Phe
- cosmic curated COSV10439
- gnomAD rs1425860292
- Missense
- Structural context available