A25T (p.Ala25Thr) variant of TGFBR1 (TGF-beta receptor type-1)
A25T (p.Ala25Thr) in TGFBR1 (TGF-beta receptor type-1) 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, published literature, and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- gnomAD 9-99105278-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.22
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.58
- Most common in the South Asian population (allele frequency 5.7e-05)
- Structural context available
- Literature evidence available