P10T (p.Pro10Thr) variant of TGFBR1 (TGF-beta receptor type-1)
P10T (p.Pro10Thr) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- gnomAD 9-99105233-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.14
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the Latino/Admixed American population (allele frequency 0.00029)
- Structural context available
- Literature evidence available