V29V (p.Val29Val) variant of CHAMP1 (Q96JM3)
V29V (p.Val29Val) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V29V (p.Val29Val) variant details
- p.Val29Val
- rs1555379332
- gnomAD 13-114323929-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 6.20
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available