D122N (p.Asp122Asn) variant of WWTR1 (Q9GZV5)
D122N (p.Asp122Asn) in WWTR1 (Q9GZV5) 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 0.43 / 1. The record also includes population frequency data and structural context.
D122N (p.Asp122Asn) variant details
- p.Asp122Asn
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10064
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.20
- CADD 25.50
- PolyPhen-2 0.17
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available