K17R (p.Lys17Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
K17R (p.Lys17Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K17R (p.Lys17Arg) variant details
- p.Lys17Arg
- rs114969026
- ClinGen CA2145860
- ClinVar RCV000480643
- ClinVar RCV000904082
- Benign/Likely benign
- not specified; Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.15
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Benign/Likely benign (not specified; Alport syndrome; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GWD population (allele frequency 0.03)
- Structural context available