S12F (p.Ser12Phe) variant of TRMU (O75648)
S12F (p.Ser12Phe) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- ExAC rs761904190
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available