M144T (p.Met144Thr) variant of KCNB1 (Q14721)
M144T (p.Met144Thr) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
M144T (p.Met144Thr) variant details
- p.Met144Thr
- Ensembl rs1980514635
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.79
- CADD 26.10
- PolyPhen-2 0.60
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)