L18P (p.Leu18Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
L18P (p.Leu18Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- rs767333630
- ExAC rs767333630
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.52
- CADD 23.80
- PolyPhen-2 0.61
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available