A26S (p.Ala26Ser) variant of TGFBR1 (TGF-beta receptor type-1)
A26S (p.Ala26Ser) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- gnomAD 9-99105281-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.15
- CADD 6.98
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available