V30I (p.Val30Ile) variant of NPHS1 (Nephrin)
V30I (p.Val30Ile) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- cosmic curated COSV62288
- ExAC rs770291189
- TOPMed rs770291189
- gnomAD rs770291189
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.05
- CADD 1.42
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available