S3T (p.Ser3Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
S3T (p.Ser3Thr) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S3T (p.Ser3Thr) variant details
- p.Ser3Thr
- ExAC rs755957159
- TOPMed rs755957159
- gnomAD rs755957159
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.15
- CADD 0.02
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available