L24P (p.Leu24Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
L24P (p.Leu24Pro) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L24P (p.Leu24Pro) variant details
- p.Leu24Pro
- gnomAD 9-134642258-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.48
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Ashkenazi Jewish population (allele frequency 0.00013)
- Structural context available
- Literature evidence available