P23S (p.Pro23Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
P23S (p.Pro23Ser) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- ExAC rs756127918
- TOPMed rs756127918
- gnomAD rs756127918
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.10
- CADD 5.42
- PolyPhen-2 0.00
- SIFT 0.81
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available