M13V (p.Met13Val) variant of PRKG1 (cGMP-dependent protein kinase 1)
M13V (p.Met13Val) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
M13V (p.Met13Val) variant details
- p.Met13Val
- gnomAD rs1488048945
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- MetaLR 0.09
- MetaSVM -1.04
- CADD 13.90
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available