A4S (p.Ala4Ser) variant of TGFBR1 (TGF-beta receptor type-1)
A4S (p.Ala4Ser) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD rs1429700300
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.22
- CADD 20.80
- PolyPhen-2 0.13
- SIFT 0.47
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available