P89H (p.Pro89His) variant of NPHS2 (Podocin)
P89H (p.Pro89His) in NPHS2 (Podocin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in NPHS2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P89H (p.Pro89His) variant details
- p.Pro89His
- NCI-TCGA Cosmic COSV6263
- Variant assessed as somatic; moderate impact.
- in NPHS2
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.33
- CADD 17.60
- PolyPhen-2 0.25
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact. (in NPHS2)
- Population evidence available
- Structural context available