K24N (p.Lys24Asn) variant of CYP21A2 (Steroid 21-hydroxylase)
K24N (p.Lys24Asn) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K24N (p.Lys24Asn) variant details
- p.Lys24Asn
- cosmic curated COSV64479
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 10.70
- PolyPhen-2 0.05
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available