I20N (p.Ile20Asn) variant of TGFBR2 (TGF-beta receptor type-2)
I20N (p.Ile20Asn) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I20N (p.Ile20Asn) variant details
- p.Ile20Asn
- Ensembl rs1037753551
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.27
- CADD 24.40
- PolyPhen-2 0.13
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available