P14S (p.Pro14Ser) variant of TERF2 (Q15554)
P14S (p.Pro14Ser) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- TOPMed rs951649049
- gnomAD rs951649049
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.217