N95S (p.Asn95Ser) variant of ADNP (Q9H2P0)
N95S (p.Asn95Ser) 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 0.53 / 1. The record also includes population frequency data and structural context.
N95S (p.Asn95Ser) variant details
- p.Asn95Ser
- NCI-TCGA Cosmic COSV6242
- cosmic curated COSV62426
- Ensembl rs1981176415
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 23.20
- PolyPhen-2 0.97
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available