V11V (p.Val11Val) variant of ACADM (P11310)
V11V (p.Val11Val) in ACADM (P11310) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V11V (p.Val11Val) variant details
- p.Val11Val
- rs1557440940
- gnomAD 1-75728403-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 15.20
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available