A348T (p.Ala348Thr) variant of CYP21A2 (Steroid 21-hydroxylase)
A348T (p.Ala348Thr) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and published literature.
A348T (p.Ala348Thr) variant details
- p.Ala348Thr
- rs2151875295
- Ensembl rs2151875295
- ClinGen CA363511052
- ClinVar RCV001667861
- Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Cited in: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. (PMID 20301350)
- Cited in: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice… (PMID 30272171)