R30K (p.Arg30Lys) variant of SPI1 (Transcription factor PU.1)
R30K (p.Arg30Lys) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R30K (p.Arg30Lys) variant details
- p.Arg30Lys
- rs140278101
- gnomAD 11-47355533-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 13.30
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available