L19P (p.Leu19Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
L19P (p.Leu19Pro) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD 9-134642243-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.57
- CADD 22.70
- PolyPhen-2 0.77
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available