I11T (p.Ile11Thr) variant of RAF1 (P04049)
I11T (p.Ile11Thr) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I11T (p.Ile11Thr) variant details
- p.Ile11Thr
- gnomAD 14-20891715-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.00
- CADD 17.90
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.63
- Literature evidence available