A24T (p.Ala24Thr) variant of HLA-C (P10321)
A24T (p.Ala24Thr) in HLA-C (P10321) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- rs41553415
- ClinGen CA3711038
- ClinVar RCV003431741
- 1000Genomes rs41553415
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.12
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.029)
- Structural context available