N24T (p.Asn24Thr) variant of FOXP1 (Forkhead box protein P1)
N24T (p.Asn24Thr) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, 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 0.27 / 1. The record also includes population frequency data and structural context.
N24T (p.Asn24Thr) variant details
- p.Asn24Thr
- rs372024541
- ClinGen CA77135956
- ClinVar RCV003707040
- ESP rs372024541
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 18.40
- PolyPhen-2 0.04
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available