A60V (p.Ala60Val) variant of NSD1 (Q96L73)
A60V (p.Ala60Val) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- Ensembl rs1756218400
- Uncertain significance
- not provided; Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.14
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Sotos syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available