L106V (p.Leu106Val) variant of ADNP (Q9H2P0)
L106V (p.Leu106Val) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L106V (p.Leu106Val) variant details
- p.Leu106Val
- gnomAD 20-50889873-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available