K47N (p.Lys47Asn) variant of COL4A5 (Collagen alpha-5(IV) chain)
K47N (p.Lys47Asn) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
K47N (p.Lys47Asn) variant details
- p.Lys47Asn
- rs1486934440
- ClinGen CA413908930
- ClinVar RCV003685971
- gnomAD rs1486934440
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.60
- AlphaMissense 0.91
- MetaLR 0.84
- MetaSVM 0.78
- CADD 35.00
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available