F128L (p.Phe128Leu) variant of ADNP (Q9H2P0)
F128L (p.Phe128Leu) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
F128L (p.Phe128Leu) variant details
- p.Phe128Leu
- cosmic curated COSV62425
- Ensembl rs2122764239
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 27.40
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available