L15V (p.Leu15Val) variant of TGFBR1 (TGF-beta receptor type-1)
L15V (p.Leu15Val) 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.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- gnomAD 9-99105248-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.10
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 8.5e-06)
- Structural context available
- Literature evidence available