S51W (p.Ser51Trp) variant of PRKG1 (cGMP-dependent protein kinase 1)
S51W (p.Ser51Trp) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S51W (p.Ser51Trp) variant details
- p.Ser51Trp
- rs752677774
- gnomAD 10-51074742-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.41
- MetaLR 0.50
- MetaSVM 0.06
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available