V13I (p.Val13Ile) variant of SPI1 (Transcription factor PU.1)
V13I (p.Val13Ile) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar 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 0.19 / 1. The record also includes population frequency data and structural context.
V13I (p.Val13Ile) variant details
- p.Val13Ile
- cosmic curated COSV57046
- ExAC rs763112210
- TOPMed rs763112210
- gnomAD rs763112210
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.01
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available