A32V (p.Ala32Val) variant of NLGN3 (Neuroligin-3)
A32V (p.Ala32Val) in NLGN3 (Neuroligin-3) 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 0.17 / 1. The record also includes population frequency data and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs1459104193
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10070
- gnomAD rs1459104193
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.10
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available