G59D (p.Gly59Asp) variant of NPHS1 (Nephrin)
G59D (p.Gly59Asp) 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 0.23 / 1. The record also includes population frequency data and structural context.
G59D (p.Gly59Asp) variant details
- p.Gly59Asp
- rs1216664192
- NCI-TCGA Cosmic COSV6228
- cosmic curated COSV62287
- TOPMed rs1216664192
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.07
- CADD 22.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available