N24R (p.Asn24Arg) variant of SOX2 (Transcription factor SOX-2)
N24R (p.Asn24Arg) in SOX2 (Transcription factor SOX-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N24R (p.Asn24Arg) variant details
- p.Asn24Arg
- rs398123693
- gnomAD 3-181712418-GGCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.893
- CADD 32.00
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.386
- Cited in: Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. (PMID 24804704)
- Cited in: Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. (PMID 24498598)