N24H (p.Asn24His) variant of SOX2 (Transcription factor SOX-2)
N24H (p.Asn24His) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N24H (p.Asn24His) variant details
- p.Asn24His
- rs777862989
- ExAC rs777862989
- gnomAD rs777862989
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.29
- MetaLR 0.71
- MetaSVM 0.15
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.386