L58P (p.Leu58Pro) variant of ADNP (Q9H2P0)
L58P (p.Leu58Pro) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L58P (p.Leu58Pro) variant details
- p.Leu58Pro
- Ensembl rs1982038125
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.44
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available