K30Q (p.Lys30Gln) variant of TGFBR2 (TGF-beta receptor type-2)
K30Q (p.Lys30Gln) 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.
K30Q (p.Lys30Gln) variant details
- p.Lys30Gln
- gnomAD 3-30606971-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- CADD 24.70
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available