p.Leu5 Ala9del variant of PCCB (P05166)
p.Leu5 Ala9del in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu5 Ala9del variant details
- rs1553773148
- gnomAD 3-136250380-CGGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 18.90
- Most common in the Non-Finnish European population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available