K42N (p.Lys42Asn) variant of PRKG1 (cGMP-dependent protein kinase 1)
K42N (p.Lys42Asn) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K42N (p.Lys42Asn) variant details
- p.Lys42Asn
- gnomAD 10-50991504-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- MetaLR 0.46
- MetaSVM -0.24
- CADD 26.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available