A31V (p.Ala31Val) variant of LRP2 (P98164)
A31V (p.Ala31Val) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Donnai-Barrow syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs144829356
- ClinGen CA248700
- ClinVar RCV000117554
- ClinVar RCV000362234
- Benign/Likely benign
- not specified; not provided; Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 16.00
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Benign/Likely benign (not specified; not provided; Donnai-Barrow syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)