S7S (p.Ser7Ser) variant of NF2 (Merlin)
S7S (p.Ser7Ser) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- rs1208509021
- gnomAD 22-29604019-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available