K41N (p.Lys41Asn) variant of COL4A4 (Collagen alpha-4(IV) chain)
K41N (p.Lys41Asn) in COL4A4 (Collagen alpha-4(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 0.54 / 1. The record also includes population frequency data and structural context.
K41N (p.Lys41Asn) variant details
- p.Lys41Asn
- rs1162611784
- ClinGen CA350866582
- ClinVar RCV001882208
- gnomAD rs1162611784
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.44
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available