P43L (p.Pro43Leu) variant of UNC13D (Protein unc-13 homolog D)
P43L (p.Pro43Leu) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- rs1167822487
- gnomAD rs1167822487
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.04
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available