N136D (p.Asn136Asp) variant of POGZ (Q7Z3K3)
N136D (p.Asn136Asp) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
N136D (p.Asn136Asp) variant details
- p.Asn136Asp
- gnomAD rs1177289550
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.19
- ESM-1b 0.89
- AlphaMissense 0.49
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available