V127I (p.Val127Ile) variant of IFT172 (Q9UG01)
V127I (p.Val127Ile) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V127I (p.Val127Ile) variant details
- p.Val127Ile
- rs763950958
- ClinGen CA1581003
- ClinVar RCV001769454
- ExAC rs763950958
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.11
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.82
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available