M100V (p.Met100Val) variant of SPI1 (Transcription factor PU.1)
M100V (p.Met100Val) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Agammaglobulinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
M100V (p.Met100Val) variant details
- p.Met100Val
- ExAC rs758384599
- gnomAD rs758384599
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.02
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available