N62S (p.Asn62Ser) variant of GATA2 (P23769)
N62S (p.Asn62Ser) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
N62S (p.Asn62Ser) variant details
- p.Asn62Ser
- ExAC rs761336696
- gnomAD rs761336696
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.55
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.25
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available