T54S (p.Thr54Ser) variant of ANKRD1 (Q15327)
T54S (p.Thr54Ser) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T54S (p.Thr54Ser) variant details
- p.Thr54Ser
- Ensembl rs2120273676
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.12
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available