V49A (p.Val49Ala) variant of NPHS1 (Nephrin)
V49A (p.Val49Ala) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V49A (p.Val49Ala) variant details
- p.Val49Ala
- TOPMed rs1973263497
- gnomAD rs1973263497
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.16
- CADD 7.69
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available