V95I (p.Val95Ile) variant of SPI1 (Transcription factor PU.1)
V95I (p.Val95Ile) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V95I (p.Val95Ile) variant details
- p.Val95Ile
- rs756375781
- ClinGen CA5975530
- ClinVar RCV004166167
- ClinVar RCV005233112
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.06
- MetaLR 0.16
- MetaSVM -0.93
- CADD 20.10
- PolyPhen-2 0.14
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available