V70L (p.Val70Leu) variant of CACNA1S (Q13698)
V70L (p.Val70Leu) in CACNA1S (Q13698) 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 0.16 / 1. The record also includes population frequency data and structural context.
V70L (p.Val70Leu) variant details
- p.Val70Leu
- rs771706267
- NCI-TCGA Cosmic COSV6294
- cosmic curated COSV62944
- ExAC rs771706267
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.06
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available