A18V (p.Ala18Val) variant of TGFBR1 (TGF-beta receptor type-1)
A18V (p.Ala18Val) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD rs1340108372
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.17
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the REMAINING population (allele frequency 4.1e-05)
- Structural context available