L40V (p.Leu40Val) variant of CYP21A2 (Steroid 21-hydroxylase)
L40V (p.Leu40Val) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- 1000Genomes rs370804438
- ExAC rs370804438
- gnomAD rs370804438
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 18.90
- PolyPhen-2 0.87
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available