K30N (p.Lys30Asn) variant of TGFBR2 (TGF-beta receptor type-2)
K30N (p.Lys30Asn) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- gnomAD 3-30606973-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.17
- CADD 24.50
- PolyPhen-2 0.01
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available