V129I (p.Val129Ile) variant of CALCRL (Q16602)
V129I (p.Val129Ile) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V129I (p.Val129Ile) variant details
- p.Val129Ile
- gnomAD rs1385126249
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.05
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available