R9S (p.Arg9Ser) variant of TGFBR1 (TGF-beta receptor type-1)
R9S (p.Arg9Ser) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- gnomAD 9-99105230-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.23
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 5.5e-05)
- Structural context available
- Literature evidence available