K29N (p.Lys29Asn) variant of COL4A3 (Collagen alpha-3(IV) chain)
K29N (p.Lys29Asn) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
K29N (p.Lys29Asn) variant details
- p.Lys29Asn
- Ensembl rs2065153716
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.34
- CADD 32.00
- PolyPhen-2 0.47
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available