L6Q (p.Leu6Gln) variant of CYP21A2 (Steroid 21-hydroxylase)
L6Q (p.Leu6Gln) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L6Q (p.Leu6Gln) variant details
- p.Leu6Gln
- gnomAD 6-32038439-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available