N34Y (p.Asn34Tyr) variant of TGFBR2 (TGF-beta receptor type-2)
N34Y (p.Asn34Tyr) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N34Y (p.Asn34Tyr) variant details
- p.Asn34Tyr
- gnomAD 3-30644752-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.27
- CADD 17.30
- PolyPhen-2 0.08
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available