T14K (p.Thr14Lys) variant of ABCD1 (P33897)
T14K (p.Thr14Lys) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T14K (p.Thr14Lys) variant details
- p.Thr14Lys
- gnomAD X-153725307-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.28
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available