L3P (p.Leu3Pro) variant of GNA11 (P29992)
L3P (p.Leu3Pro) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- Ensembl rs1913317207
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.56
- CADD 26.80
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available