P31T (p.Pro31Thr) variant of CRX (Cone-rod homeobox protein)
P31T (p.Pro31Thr) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P31T (p.Pro31Thr) variant details
- p.Pro31Thr
- TOPMed rs1453222875
- gnomAD rs1453222875
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.23
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.327