N34K (p.Asn34Lys) variant of TGFBR2 (TGF-beta receptor type-2)
N34K (p.Asn34Lys) in TGFBR2 (TGF-beta receptor type-2) 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.
N34K (p.Asn34Lys) variant details
- p.Asn34Lys
- gnomAD 3-30644754-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.20
- CADD 0.15
- PolyPhen-2 0.02
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available