L63F (p.Leu63Phe) variant of NPPA (Natriuretic peptides A)
L63F (p.Leu63Phe) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L63F (p.Leu63Phe) variant details
- p.Leu63Phe
- gnomAD 1-11847376-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.11
- CADD 9.54
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available