L61F (p.Leu61Phe) variant of COL4A5 (Collagen alpha-5(IV) chain)
L61F (p.Leu61Phe) in COL4A5 (Collagen alpha-5(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 0.52 / 1. The record also includes structural context.
L61F (p.Leu61Phe) variant details
- p.Leu61Phe
- rs1197962947
- TOPMed rs1197962947
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 0.16
- MetaLR 0.74
- MetaSVM 0.02
- PolyPhen-2 0.41
- SIFT 1.00
- EVE 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available