H49N (p.His49Asn) variant of SPI1 (Transcription factor PU.1)
H49N (p.His49Asn) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H49N (p.His49Asn) variant details
- p.His49Asn
- cosmic curated COSV10874
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.11
- MetaLR 0.05
- MetaSVM -1.07
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.05
- Population evidence available
- Structural context available