L14F (p.Leu14Phe) variant of TGFBR1 (TGF-beta receptor type-1)
L14F (p.Leu14Phe) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- gnomAD 9-99105245-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.13
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available