A22P (p.Ala22Pro) variant of TGFBR1 (TGF-beta receptor type-1)
A22P (p.Ala22Pro) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- gnomAD 9-99105269-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.30
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available