Q14R (p.Gln14Arg) variant of SHMT2 (P34897)
Q14R (p.Gln14Arg) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
Q14R (p.Gln14Arg) variant details
- p.Gln14Arg
- TOPMed rs1292619200
- Missense
- Variant Prioritization Score for Impact Estimate 0.0949
- REVEL 0.06
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the HGDP:BEDOUIN population (allele frequency 0.2)
- Structural context available