H24N (p.His24Asn) variant of FMR1 (Q06787)
H24N (p.His24Asn) in FMR1 (Q06787) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H24N (p.His24Asn) variant details
- p.His24Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.39
- CADD 25.80
- PolyPhen-2 0.60
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.106