L26M (p.Leu26Met) variant of COL5A1 (Collagen alpha-1(V) chain)
L26M (p.Leu26Met) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L26M (p.Leu26Met) variant details
- p.Leu26Met
- gnomAD 9-134642263-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.36
- CADD 21.00
- PolyPhen-2 0.05
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available