T64R (p.Thr64Arg) variant of ADNP (Q9H2P0)
T64R (p.Thr64Arg) in ADNP (Q9H2P0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
T64R (p.Thr64Arg) variant details
- p.Thr64Arg
- NCI-TCGA Cosmic COSV6242
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available