A24G (p.Ala24Gly) variant of COL4A3 (Collagen alpha-3(IV) chain)
A24G (p.Ala24Gly) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Kidney disorder; not specified; not provided. 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.
A24G (p.Ala24Gly) variant details
- p.Ala24Gly
- rs184704920
- ClinGen CA2145894
- ClinVar RCV000591094
- ClinVar RCV000888221
- Benign/Likely benign
- Kidney disorder; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.11
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Benign/Likely benign (Kidney disorder; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BIAKA population (allele frequency 0.11)
- Structural context available