V144A (p.Val144Ala) variant of GRM5 (P41594)
V144A (p.Val144Ala) in GRM5 (P41594) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
V144A (p.Val144Ala) variant details
- p.Val144Ala
- rs200953711
- ClinGen CA6220921
- ClinVar RCV004180842
- ExAC rs200953711
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.64
- MetaLR 0.55
- MetaSVM 0.03
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.3e-05)