L7R (p.Leu7Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
L7R (p.Leu7Arg) 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.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- gnomAD 6-32038442-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 23.00
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- Literature evidence available