M5L (p.Met5Leu) variant of KCNB1 (Q14721)
M5L (p.Met5Leu) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
M5L (p.Met5Leu) variant details
- p.Met5Leu
- Ensembl rs924619372
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.34
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 6.7e-06)