P25S (p.Pro25Ser) variant of TERF2 (Q15554)
P25S (p.Pro25Ser) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- gnomAD rs1168653234
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.235