L8R (p.Leu8Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
L8R (p.Leu8Arg) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- gnomAD 6-32038445-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 25.70
- PolyPhen-2 0.85
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available