P11A (p.Pro11Ala) variant of TGFBR2 (TGF-beta receptor type-2)
P11A (p.Pro11Ala) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- gnomAD 3-30606914-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available