P14S (p.Pro14Ser) variant of SPI1 (Transcription factor PU.1)
P14S (p.Pro14Ser) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- cosmic curated COSV10808
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.03
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available