P58S (p.Pro58Ser) variant of NPHS1 (Nephrin)
P58S (p.Pro58Ser) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P58S (p.Pro58Ser) variant details
- p.Pro58Ser
- cosmic curated COSV62286
- TOPMed rs1973262633
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.05
- CADD 19.60
- PolyPhen-2 0.42
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available