M30T (p.Met30Thr) variant of TECRL (Q5HYJ1)
M30T (p.Met30Thr) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
M30T (p.Met30Thr) variant details
- p.Met30Thr
- TOPMed rs962845532
- gnomAD rs962845532
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 5.68
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available