A3A (p.Ala3Ala) variant of CHAMP1 (Q96JM3)
A3A (p.Ala3Ala) 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.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- gnomAD 13-114323851-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 10.20
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available