L47P (p.Leu47Pro) variant of PRKG1 (cGMP-dependent protein kinase 1)
L47P (p.Leu47Pro) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L47P (p.Leu47Pro) variant details
- p.Leu47Pro
- rs767414253
- gnomAD 10-51074727-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.49
- MetaLR 0.55
- MetaSVM 0.19
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available