R3L (p.Arg3Leu) variant of PCSK1 (Neuroendocrine convertase 1)
R3L (p.Arg3Leu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- ExAC rs767413349
- gnomAD rs767413349
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.06
- CADD 9.81
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available