V70I (p.Val70Ile) variant of GATA2 (P23769)
V70I (p.Val70Ile) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V70I (p.Val70Ile) variant details
- p.Val70Ile
- cosmic curated COSV62008
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.45
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available