V29A (p.Val29Ala) variant of POGZ (Q7Z3K3)
V29A (p.Val29Ala) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- Ensembl rs2102370664
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.41
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available