P10H (p.Pro10His) variant of TERF2 (Q15554)
P10H (p.Pro10His) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P10H (p.Pro10His) variant details
- p.Pro10His
- TOPMed rs1219788477
- gnomAD rs1219788477
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 4e-06)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.377