P10L (p.Pro10Leu) variant of TERF2 (Q15554)
P10L (p.Pro10Leu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- TOPMed rs1219788477
- gnomAD rs1219788477
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.377