P31A (p.Pro31Ala) variant of NSD1 (Q96L73)
P31A (p.Pro31Ala) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P31A (p.Pro31Ala) variant details
- p.Pro31Ala
- rs905320202
- ClinGen CA132834070
- ClinVar RCV001539286
- TOPMed rs905320202
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.37
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available