P136T (p.Pro136Thr) variant of ETV5 (ETS translocation variant 5)
P136T (p.Pro136Thr) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
P136T (p.Pro136Thr) variant details
- p.Pro136Thr
- ExAC rs763481967
- gnomAD rs763481967
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.32
- CADD 24.90
- PolyPhen-2 0.71
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)