V16A (p.Val16Ala) variant of TGFBR1 (TGF-beta receptor type-1)
V16A (p.Val16Ala) 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.
V16A (p.Val16Ala) variant details
- p.Val16Ala
- gnomAD 9-99105252-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.23
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available