D48N (p.Asp48Asn) variant of SPI1 (Transcription factor PU.1)
D48N (p.Asp48Asn) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D48N (p.Asp48Asn) variant details
- p.Asp48Asn
- cosmic curated COSV10874
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -1.05
- CADD 33.00
- PolyPhen-2 0.80
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available