K17T (p.Lys17Thr) variant of BCL2 (Apoptosis regulator Bcl-2)
K17T (p.Lys17Thr) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K17T (p.Lys17Thr) variant details
- p.Lys17Thr
- gnomAD 18-63318617-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.13
- MetaLR 0.03
- MetaSVM -1.08
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available