S31L (p.Ser31Leu) variant of TGFBR2 (TGF-beta receptor type-2)
S31L (p.Ser31Leu) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S31L (p.Ser31Leu) variant details
- p.Ser31Leu
- gnomAD 3-30606975-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.16
- CADD 29.00
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available