A66T (p.Ala66Thr) variant of SPI1 (Transcription factor PU.1)
A66T (p.Ala66Thr) 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 0.11 / 1. The record also includes population frequency data and structural context.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- rs113825984
- NCI-TCGA Cosmic COSV5704
- cosmic curated COSV57044
- ExAC rs113825984
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -0.97
- CADD 3.71
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- Structural context available