L70F (p.Leu70Phe) variant of COL5A2 (Collagen alpha-2(V) chain)
L70F (p.Leu70Phe) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; COL5A2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L70F (p.Leu70Phe) variant details
- p.Leu70Phe
- rs1687236468
- ClinGen CA349868111
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV003391653
- Uncertain significance
- not specified; COL5A2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.39
- CADD 26.40
- PolyPhen-2 0.88
- SIFT 0.03
- ClinVar: Uncertain significance (not specified; COL5A2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available