I14T (p.Ile14Thr) variant of ETFB (P38117)
I14T (p.Ile14Thr) in ETFB (P38117) 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 0.73 / 1. The record also includes population frequency data and structural context.
I14T (p.Ile14Thr) variant details
- p.Ile14Thr
- rs1568471932
- cosmic curated COSV52468
- NCI-TCGA Cosmic COSV5246
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.76
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available