I53L (p.Ile53Leu) variant of ZRSR2 (Q15696)
I53L (p.Ile53Leu) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I53L (p.Ile53Leu) variant details
- p.Ile53Leu
- gnomAD X-15799907-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.02
- MetaLR 0.42
- MetaSVM -0.81
- CADD 6.41
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available