A16T (p.Ala16Thr) variant of CYP21A2 (Steroid 21-hydroxylase)
A16T (p.Ala16Thr) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in AH3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- rs63749090
- gnomAD rs63749090
- UniProt VAR 026059
- Uncertain significance
- in AH3
- Missense
- Variant Prioritization Score for Impact Estimate 0.0763
- CADD 0.21
- PolyPhen-2 0.00
- SIFT 0.88
- EBI: Variant of uncertain significance (in AH3)
- UniProt: Uncertain significance (in AH3)
- Most common in the Latino/Admixed American population (allele frequency 5.2e-05)
- Structural context available
- Cited in: Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu… (PMID 12887291)
- Cited in: Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital… (PMID 15126570)