L42F (p.Leu42Phe) variant of ZRSR2 (Q15696)
L42F (p.Leu42Phe) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- gnomAD X-15799874-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.06
- MetaLR 0.43
- MetaSVM -0.64
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available