P31R (p.Pro31Arg) variant of NSD1 (Q96L73)
P31R (p.Pro31Arg) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P31R (p.Pro31Arg) variant details
- p.Pro31Arg
- TOPMed rs1269686460
- gnomAD rs1269686460
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.47
- CADD 24.50
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available