L27V (p.Leu27Val) variant of NRXN1 (Neurexin-1)
L27V (p.Leu27Val) in NRXN1 (Neurexin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- gnomAD rs1670916214
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.20
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.41
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available