L53V (p.Leu53Val) variant of PCSK1 (Neuroendocrine convertase 1)
L53V (p.Leu53Val) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L53V (p.Leu53Val) variant details
- p.Leu53Val
- gnomAD rs1263975971
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.07
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available