V31A (p.Val31Ala) variant of L1CAM (Neural cell adhesion molecule L1)
V31A (p.Val31Ala) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V31A (p.Val31Ala) variant details
- p.Val31Ala
- rs782476478
- ClinGen CA10554665
- ClinVar RCV003750828
- ExAC rs782476478
- Benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.58
- CADD 21.60
- PolyPhen-2 0.10
- SIFT 0.10
- ClinVar: Benign (Spastic paraplegia)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available