A26T (p.Ala26Thr) variant of COL4A5 (Collagen alpha-5(IV) chain)
A26T (p.Ala26Thr) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs1276860807
- ClinGen CA413906024
- ClinVar RCV002134224
- gnomAD rs1276860807
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.34
- MetaLR 0.65
- MetaSVM -0.07
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.09
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available