A12A (p.Ala12Ala) variant of CHAMP1 (Q96JM3)
A12A (p.Ala12Ala) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- gnomAD 13-114323878-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.30
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Literature evidence available