D67G (p.Asp67Gly) variant of NPHS1 (Nephrin)
D67G (p.Asp67Gly) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D67G (p.Asp67Gly) variant details
- p.Asp67Gly
- gnomAD rs1265073873
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.20
- CADD 27.20
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available