P99T (p.Pro99Thr) variant of SPI1 (Transcription factor PU.1)
P99T (p.Pro99Thr) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P99T (p.Pro99Thr) variant details
- p.Pro99Thr
- TOPMed rs1020808352
- gnomAD rs1020808352
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.06
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available