p.Ala58 Asp59insArgGlyLeuLeuTer variant of PLCG2 (P16885)
p.Ala58 Asp59insArgGlyLeuLeuTer in PLCG2 (P16885) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala58 Asp59insArgGlyLeuLeuTer variant details
- gnomAD 16-81786163-T-TCG
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available