E132D (p.Glu132Asp) variant of IFT172 (Q9UG01)
E132D (p.Glu132Asp) in IFT172 (Q9UG01) 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 0.18 / 1. The record also includes population frequency data and structural context.
E132D (p.Glu132Asp) variant details
- p.Glu132Asp
- ExAC rs772179397
- gnomAD rs772179397
- NCI-TCGA Cosmic COSV5313
- cosmic curated COSV53133
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.09
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available