S25L (p.Ser25Leu) variant of COL4A4 (Collagen alpha-4(IV) chain)
S25L (p.Ser25Leu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S25L (p.Ser25Leu) variant details
- p.Ser25Leu
- ESP rs370486963
- ExAC rs370486963
- TOPMed rs370486963
- gnomAD rs370486963
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.14
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available