V18V (p.Val18Val) variant of GATA3 (P23771)
V18V (p.Val18Val) in GATA3 (P23771) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V18V (p.Val18Val) variant details
- p.Val18Val
- rs767163950
- gnomAD 10-8055709-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 11.40
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available