A41T (p.Ala41Thr) variant of KCNB1 (Q14721)
A41T (p.Ala41Thr) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
A41T (p.Ala41Thr) variant details
- p.Ala41Thr
- cosmic curated COSV65569
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.26
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.40
- Population evidence available