P73S (p.Pro73Ser) variant of ADNP (Q9H2P0)
P73S (p.Pro73Ser) 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 0.74 / 1. The record also includes population frequency data and structural context.
P73S (p.Pro73Ser) variant details
- p.Pro73Ser
- NCI-TCGA Cosmic COSV6242
- cosmic curated COSV62425
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 23.90
- PolyPhen-2 0.18
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available