A4A (p.Ala4Ala) variant of NF2 (Merlin)
A4A (p.Ala4Ala) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs144477078
- gnomAD 22-29604010-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 16.20
- Most common in the 1KG:MSL population (allele frequency 0.019)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)