L81Q (p.Leu81Gln) variant of NRXN2 (Neurexin-2)
L81Q (p.Leu81Gln) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L81Q (p.Leu81Gln) variant details
- p.Leu81Gln
- rs12273892
- ClinGen CA154152
- cosmic curated COSV10720
- ClinVar RCV000117848
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.24
- MetaLR 0.00
- MetaSVM -0.99
- CADD 23.20
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs12273892)
- UniProt: Benign (in dbSNP:rs12273892)
- Most common in the HGDP:SAN population (allele frequency 0.5)
- Structural context available