P25S (p.Pro25Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
P25S (p.Pro25Ser) 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 0.24 / 1. The record also includes population frequency data and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- rs139271412
- ClinGen CA2145895
- ClinVar RCV000243130
- ClinVar RCV000968555
- Benign/Likely benign
- Kidney disorder; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.17
- CADD 6.54
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Benign/Likely benign (Kidney disorder; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:YRI population (allele frequency 0.069)
- Structural context available