p.Ala9 Val10insAlaLeuArgValAlaAl variant of PCCB (P05166)

Name: PCCB p.Ala9 Val10insAlaLeuArgValAlaAl variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

p.Ala9 Val10insAlaLeuArgValAlaAl in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.

p.Ala9 Val10insAlaLeuArgValAlaAl variant details

gnomAD 3-136250376-A-ATG
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.588
CADD 20.60
Most common in the East Asian population (allele frequency 5.5e-05)
Structural context available
Literature evidence available