H137Y (p.His137Tyr) variant of TERF2 (Q15554)
H137Y (p.His137Tyr) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H137Y (p.His137Tyr) variant details
- p.His137Tyr
- gnomAD rs1336939532
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.14
- MetaLR 0.05
- MetaSVM -1.07
- CADD 25.50
- PolyPhen-2 0.73
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available