S2N (p.Ser2Asn) variant of PRKG1 (cGMP-dependent protein kinase 1)
S2N (p.Ser2Asn) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- cosmic curated COSV10943
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- MetaLR 0.20
- MetaSVM -0.86
- CADD 22.90
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available