N21K (p.Asn21Lys) variant of CYP21A2 (Steroid 21-hydroxylase)
N21K (p.Asn21Lys) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N21K (p.Asn21Lys) variant details
- p.Asn21Lys
- gnomAD 6-32038485-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 9.08
- PolyPhen-2 0.08
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available