Q42K (p.Gln42Lys) variant of CYP21A2 (Steroid 21-hydroxylase)
Q42K (p.Gln42Lys) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q42K (p.Gln42Lys) variant details
- p.Gln42Lys
- gnomAD 6-32038546-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 17.00
- PolyPhen-2 0.54
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available