V38I (p.Val38Ile) variant of TGFBR2 (TGF-beta receptor type-2)
V38I (p.Val38Ile) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V38I (p.Val38Ile) variant details
- p.Val38Ile
- cosmic curated COSV55454
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.18
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available