S109F (p.Ser109Phe) variant of NPHS2 (Podocin)
S109F (p.Ser109Phe) in NPHS2 (Podocin) 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 structural context.
S109F (p.Ser109Phe) variant details
- p.Ser109Phe
- rs267598209
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62634
- Ensembl rs267598209
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 0.30
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.90
- SIFT 0.01
- EVE 0.45
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available