P23T (p.Pro23Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
P23T (p.Pro23Thr) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P23T (p.Pro23Thr) variant details
- p.Pro23Thr
- ExAC rs756127918
- TOPMed rs756127918
- gnomAD rs756127918
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.17
- CADD 8.66
- PolyPhen-2 0.06
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available