K73E (p.Lys73Glu) variant of COL5A2 (Collagen alpha-2(V) chain)
K73E (p.Lys73Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
K73E (p.Lys73Glu) variant details
- p.Lys73Glu
- rs1359910385
- ClinGen CA349868047
- ClinVar RCV003480002
- TOPMed rs1359910385
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.08
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available