L13P (p.Leu13Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
L13P (p.Leu13Pro) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD rs1831313975
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.38
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available