V5F (p.Val5Phe) variant of TGFBR1 (TGF-beta receptor type-1)
V5F (p.Val5Phe) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V5F (p.Val5Phe) variant details
- p.Val5Phe
- gnomAD 9-99105218-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.22
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available