I14N (p.Ile14Asn) variant of TGFBR2 (TGF-beta receptor type-2)
I14N (p.Ile14Asn) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I14N (p.Ile14Asn) variant details
- p.Ile14Asn
- NCI-TCGA Cosmic COSV5545
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.29
- CADD 24.90
- PolyPhen-2 0.01
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available