L7P (p.Leu7Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
L7P (p.Leu7Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- gnomAD rs1017290704
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 24.20
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available