A86A (p.Ala86Ala) variant of CHAMP1 (Q96JM3)
A86A (p.Ala86Ala) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A86A (p.Ala86Ala) variant details
- p.Ala86Ala
- rs2087205621
- gnomAD 13-114324100-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 9.77
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available