A53A (p.Ala53Ala) variant of PLCG2 (P16885)
A53A (p.Ala53Ala) in PLCG2 (P16885) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A53A (p.Ala53Ala) variant details
- p.Ala53Ala
- rs767741418
- gnomAD 16-81786148-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 10.50
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.177
- Literature evidence available