S37T (p.Ser37Thr) variant of FOXP1 (Forkhead box protein P1)
S37T (p.Ser37Thr) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S37T (p.Ser37Thr) variant details
- p.Ser37Thr
- TOPMed rs1247696224
- gnomAD rs1247696224
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available