K6N (p.Lys6Asn) variant of SPI1 (Transcription factor PU.1)
K6N (p.Lys6Asn) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K6N (p.Lys6Asn) variant details
- p.Lys6Asn
- Ensembl rs866492257
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.08
- CADD 23.60
- PolyPhen-2 0.08
- SIFT 0.15
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available