P45T (p.Pro45Thr) variant of NPHS2 (Podocin)
P45T (p.Pro45Thr) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P45T (p.Pro45Thr) variant details
- p.Pro45Thr
- Ensembl rs2101887423
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.23
- CADD 8.50
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available