N69K (p.Asn69Lys) variant of SPI1 (Transcription factor PU.1)
N69K (p.Asn69Lys) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N69K (p.Asn69Lys) variant details
- p.Asn69Lys
- cosmic curated COSV57047
- TOPMed rs992345752
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available