P31L (p.Pro31Leu) variant of NPHS1 (Nephrin)
P31L (p.Pro31Leu) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- cosmic curated COSV10527
- TOPMed rs1015599425
- gnomAD rs1015599425
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.16
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available