p.Met7 Lys12del variant of ZRSR2 (Q15696)
p.Met7 Lys12del in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
p.Met7 Lys12del variant details
- gnomAD X-15790504-GCCCGA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available