P81Q (p.Pro81Gln) variant of NPHS1 (Nephrin)
P81Q (p.Pro81Gln) in NPHS1 (Nephrin) 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 0.40 / 1. The record also includes population frequency data and structural context.
P81Q (p.Pro81Gln) variant details
- p.Pro81Gln
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10080
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.28
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available