L49L (p.Leu49Leu) variant of CHAMP1 (Q96JM3)
L49L (p.Leu49Leu) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs1594128540
- gnomAD 13-114323987-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 7.14
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available