A6S (p.Ala6Ser) variant of NF2 (Merlin)
A6S (p.Ala6Ser) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 22-29604014-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available