P214S (p.Pro214Ser) variant of POGZ (Q7Z3K3)
P214S (p.Pro214Ser) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P214S (p.Pro214Ser) variant details
- p.Pro214Ser
- ExAC rs766001063
- gnomAD rs766001063
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.50
- PolyPhen-2 0.76
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available