L107V (p.Leu107Val) variant of ADNP (Q9H2P0)
L107V (p.Leu107Val) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L107V (p.Leu107Val) variant details
- p.Leu107Val
- gnomAD 20-50889837-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0811
- CADD 0.12
- Most common in the South Asian population (allele frequency 0.00033)
- Structural context available
- Literature evidence available